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ASAH1
- Farber Disease
- Erdheim–chester Disease
PNP
- Purine Nucleoside Phosphorylase Deficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
VPS13A
- Neuroacanthocytosis
WT1
- Primary Ovarian Insufficiency
- Horseshoe Kidney
- Gonadotropin-Resistant Ovary Syndrome
- Atrial Septal Defect 9
KANSL1
- 17q21.31 Microdeletion Syndrome
- Atrial Septal Defect 9
SS18
- Synovial Sarcoma
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Atrial Septal Defect 9
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
TTN
- Cardiomyopathy, Familial Hypertrophic, 9
- Atrial Septal Defect 9
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Richter's Transformation
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency